Portuondo BE, Acuña GPM, González BAG, Rigautdi MC, Pérez FIC

Language: Spanish
References: 0
Page: 321-329
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ABSTRACT

Introduction: incotinentia pigmenti is a rare genodermatosis linked to the X chromosome. It affects the female sex and has different clinical manifestations in the same family.
Case presentation: a 20-month-old infant with a family history of incotinentia pigmenti, who from the first week of life presented typical lesions on the skin of linear, vesicular-crust-bullous, warty, and then hyperpigmented aspects, in different phases and multiple outbreaks. From the first month of life, the patient presented epileptic seizures that evolved to West encephalopathy, with good response to vigabatrin and control of infantile spasms.
Conclusions: incotinentia pigmenti is characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin and other skin´s structures, the eyes and the central nervous system causing multisystem damage. Skin lesions are the most significant since birth, and skin biopsy confirms the diagnosis.